Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Image

details

Congenital insensitivity to pain-hypohidrosis syndrome(HSAN8)

MedGen UID:: 894363
•Concept ID:: C4225308
•: Disease or Syndrome

Synonyms:	HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII
SNOMED CT:	HSAN8 - hereditary sensory and autonomic neuropathy type 8 (1172838005); Hereditary sensory and autonomic neuropathy type 8 (1172838005); Hereditary sensory and autonomic neuropathy type VIII (1172838005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PRDM12 (9q34.12)

Monarch Initiative:	MONDO:0014662
OMIM®:	616488
Orphanet:	ORPHA478664

Definition

Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400). [from OMIM]

Clinical features

From HPO

Gastrointestinal dysmotility

MedGen UID:: 324638
•Concept ID:: C1836923
•: Finding

Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.

See: Feature record | Search on this feature

Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

See: Feature record | Search on this feature

Hypoesthesia

MedGen UID:: 6974
•Concept ID:: C0020580
•: Finding

Decreased ability to perceive touch.

See: Feature record | Search on this feature

Pain insensitivity

MedGen UID:: 488855
•Concept ID:: C0344307
•: Finding

Inability to perceive painful stimuli.

See: Feature record | Search on this feature

Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

Reduction of neurologic reflexes such as the knee-jerk reaction.

See: Feature record | Search on this feature

Impaired vibratory sensation

MedGen UID:: 220959
•Concept ID:: C1295585
•: Finding

A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.

See: Feature record | Search on this feature

Impaired proprioception

MedGen UID:: 346424
•Concept ID:: C1856691
•: Finding

A loss or impairment of the sensation of the relative position of parts of the body and joint position.

See: Feature record | Search on this feature

Hyposmia

MedGen UID:: 473584
•Concept ID:: C2364082
•: Finding

A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Impaired temperature sensation

MedGen UID:: 866867
•Concept ID:: C4021222
•: Finding

A reduced ability to discriminate between different temperatures.

See: Feature record | Search on this feature

Corneal scarring

MedGen UID:: 83899
•Concept ID:: C0349702
•: Finding

Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.

See: Feature record | Search on this feature

Recurrent skin infections

MedGen UID:: 377848
•Concept ID:: C1853193
•: Disease or Syndrome

Infections of the skin that happen multiple times.

See: Feature record | Search on this feature

Hypohidrosis

MedGen UID:: 43796
•Concept ID:: C0020620
•: Disease or Syndrome

Abnormally diminished capacity to sweat.

See: Feature record | Search on this feature

Corneal ulceration

MedGen UID:: 40486
•Concept ID:: C0010043
•: Disease or Syndrome

Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.

See: Feature record | Search on this feature

Decreased lacrimation

MedGen UID:: 116004
•Concept ID:: C0235857
•: Finding

Abnormally decreased lacrimation, that is, reduced ability to produce tears.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the digestive system
- Gastrointestinal dysmotility
Abnormality of the eye
- Corneal ulceration
- Decreased lacrimation
Abnormality of the immune system
- Recurrent skin infections
Abnormality of the integument
- Hypohidrosis
Abnormality of the musculoskeletal system
- Corneal scarring
Abnormality of the nervous system
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital insensitivity to pain-hypohidrosis syndrome

Autosomal recessive hereditary sensory and autonomic neuropathy
- Congenital insensitivity to pain-hypohidrosis syndrome

Professional guidelines

PubMed

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.

Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM
Eur J Endocrinol 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073. PMID: 35353710 Free PMC Article

Treatment of congenital malformations.

Brucker SY, Rall K, Campo R, Oppelt P, Isaacson K
Semin Reprod Med 2011 Mar;29(2):101-12. Epub 2011 Mar 24 doi: 10.1055/s-0031-1272472. PMID: 21437824

Menstrual disorders in adolescence: investigation and management.

Hickey M, Balen A
Hum Reprod Update 2003 Sep-Oct;9(5):493-504. doi: 10.1093/humupd/dmg038. PMID: 14640381

See all (26)

Recent clinical studies

Etiology

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People.

Cools M, Simmonds M, Elford S, Gorter J, Ahmed SF, D'Alberton F, Springer A, Hiort O; Management Committee of the European Cooperation in Science and Technology Action BM1303
Eur Urol 2016 Sep;70(3):407-9. Epub 2016 Jun 6 doi: 10.1016/j.eururo.2016.05.015. PMID: 27210458

Central hypoventilation and brainstem dysgenesis.

Armangue T, Macaya A, Vazquez E, Jurado MJ, Roig-Quilis M
Pediatr Neurol 2012 Apr;46(4):257-9. doi: 10.1016/j.pediatrneurol.2012.02.011. PMID: 22490775

Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity).

Laron Z
Pediatr Endocrinol Rev 2008 Mar;5(3):766-71. PMID: 18367997

Surgical management of ambiguous genitalia.

Rangecroft L; British Association of Paediatric Surgeons Working Party on the Surgical Management of Children Born With Ambiguous Genitalia
Arch Dis Child 2003 Sep;88(9):799-801. doi: 10.1136/adc.88.9.799. PMID: 12937103 Free PMC Article

Tumors of the testis in intersex syndromes.

Levin HS
Urol Clin North Am 2000 Aug;27(3):543-51, x. doi: 10.1016/s0094-0143(05)70101-4. PMID: 10985153

See all (133)

Diagnosis

Hormone-Based Treatments in Subfertile Males.

Patel DP, Chandrapal JC, Hotaling JM
Curr Urol Rep 2016 Aug;17(8):56. doi: 10.1007/s11934-016-0612-4. PMID: 27292256

Approach to the Infant with a Suspected Disorder of Sex Development.

Wherrett DK
Pediatr Clin North Am 2015 Aug;62(4):983-99. Epub 2015 May 23 doi: 10.1016/j.pcl.2015.04.011. PMID: 26210628

Child abuse.

Dorst JP
Radiologe 1982 Aug;22(8):335-41. PMID: 6182578

Intersexual problems.

Money J
Clin Obstet Gynecol 1973 Sep;16(3):169-91. doi: 10.1097/00003081-197309000-00012. PMID: 4147919

Amenorrhea.

Marchant DJ
Clin Obstet Gynecol 1969 Sep;12(3):693-707. doi: 10.1097/00003081-196909000-00010. PMID: 5388335

See all (198)

Therapy

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.

Hormone-Based Treatments in Subfertile Males.

Patel DP, Chandrapal JC, Hotaling JM
Curr Urol Rep 2016 Aug;17(8):56. doi: 10.1007/s11934-016-0612-4. PMID: 27292256

Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity).

Laron Z
Pediatr Endocrinol Rev 2008 Mar;5(3):766-71. PMID: 18367997

Intersexual problems.

Money J
Clin Obstet Gynecol 1973 Sep;16(3):169-91. doi: 10.1097/00003081-197309000-00012. PMID: 4147919

Amenorrhea.

Marchant DJ
Clin Obstet Gynecol 1969 Sep;12(3):693-707. doi: 10.1097/00003081-196909000-00010. PMID: 5388335

See all (51)

Prognosis

Vaginal agenesis treated by coital dilatation in 20 patients.

Moen MH
Int J Gynaecol Obstet 2014 Jun;125(3):282-3. Epub 2014 Feb 26 doi: 10.1016/j.ijgo.2014.01.007. PMID: 24630858

Intersexuality and sexual rights in southern Brazil.

Machado P
Cult Health Sex 2009 Apr;11(3):237-50. doi: 10.1080/13691050802233454. PMID: 19296306

Congenital corneal anesthesia.

Ramaesh K, Stokes J, Henry E, Dutton GN, Dhillon B
Surv Ophthalmol 2007 Jan-Feb;52(1):50-60. doi: 10.1016/j.survophthal.2006.10.004. PMID: 17212990

Psychological long-term outcome in intersex conditions.

Cohen-Kettenis P
Horm Res 2005;64 Suppl 2:27-30. doi: 10.1159/000087750. PMID: 16286767

McIndoe procedure for congenital vaginal agenesis: complications and results.

Højsgaard A, Villadsen I
Br J Plast Surg 1995 Mar;48(2):97-102. doi: 10.1016/0007-1226(95)90104-3. PMID: 7743055

See all (57)

Clinical prediction guides

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.

Marchi M, D'Amato I, Andelic M, Cartelli D, Salvi E, Lombardi R, Gumus E, Lauria G
Pain 2022 Jul 1;163(7):e882-e887. Epub 2021 Nov 15 doi: 10.1097/j.pain.0000000000002535. PMID: 34799533 Free PMC Article

Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B
Clin Neurol Neurosurg 2020 Feb;189:105636. Epub 2019 Dec 9 doi: 10.1016/j.clineuro.2019.105636. PMID: 31841741

Androgen insensitivity syndrome.

Mendoza N, Motos MA
Gynecol Endocrinol 2013 Jan;29(1):1-5. Epub 2012 Jul 20 doi: 10.3109/09513590.2012.705378. PMID: 22812659

Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity).

Laron Z
Pediatr Endocrinol Rev 2008 Mar;5(3):766-71. PMID: 18367997

Psychological long-term outcome in intersex conditions.

Cohen-Kettenis P
Horm Res 2005;64 Suppl 2:27-30. doi: 10.1159/000087750. PMID: 16286767

See all (78)