Polyglandular autoimmune syndrome, type 1- MedGen UID:
- 39125
- •Concept ID:
- C0085859
- •
- Disease or Syndrome
Autoimmune polyglandular syndrome type I (APS1) is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over long-term follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).
Vitamin D-dependent rickets type II with alopecia- MedGen UID:
- 90989
- •Concept ID:
- C0342646
- •
- Disease or Syndrome
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.
VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.
For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Satoyoshi syndrome- MedGen UID:
- 318882
- •Concept ID:
- C1833454
- •
- Disease or Syndrome
Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).
Alopecia-intellectual disability syndrome 2- MedGen UID:
- 372142
- •Concept ID:
- C1835852
- •
- Disease or Syndrome
Alopecia areata 2- MedGen UID:
- 343971
- •Concept ID:
- C1853104
- •
- Disease or Syndrome
Immunodeficiency due to CD25 deficiency- MedGen UID:
- 377894
- •Concept ID:
- C1853392
- •
- Disease or Syndrome
Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013).
Alopecia universalis congenita- MedGen UID:
- 349262
- •Concept ID:
- C1859877
- •
- Congenital Abnormality
Alopecia universalis congenita (ALUNC) is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998).
This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition.
Alopecia-intellectual disability syndrome 1- MedGen UID:
- 349263
- •Concept ID:
- C1859878
- •
- Disease or Syndrome
Alopecia-intellectual disability syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mildly to severely impaired intellectual development (summary by Wali et al., 2007).
Genetic Heterogeneity of Alopecia-Intellectual Disability Syndrome
Loci for alopecia-intellectual disability syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930). APMR4 (618840) is caused by mutation in the LSS gene (600909) on chromosome 21q22.
Alopecia areata 1- MedGen UID:
- 400208
- •Concept ID:
- C1863094
- •
- Disease or Syndrome
Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).
Lethal acantholytic epidermolysis bullosa- MedGen UID:
- 400622
- •Concept ID:
- C1864826
- •
- Disease or Syndrome
Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010).
Alopecia-intellectual disability syndrome 3- MedGen UID:
- 462712
- •Concept ID:
- C3151362
- •
- Disease or Syndrome
Hypotrichosis 11- MedGen UID:
- 767323
- •Concept ID:
- C3554409
- •
- Disease or Syndrome
Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have brittle or absent eyebrows and eyelashes as well as sparse body hair, without hair shaft anomalies (summary by Pan et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
Olmsted syndrome 1- MedGen UID:
- 1778121
- •Concept ID:
- C5542829
- •
- Disease or Syndrome
Olmsted syndrome-1 (OLMS1) is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).
Genetic Heterogeneity of Olmsted Syndrome
Olmsted syndrome-2 (OLMS2; 619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23.
An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22.
Olmsted syndrome 2- MedGen UID:
- 1779902
- •Concept ID:
- C5543096
- •
- Disease or Syndrome
Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair (Duchatelet et al., 2019). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus and alopecia universalis have been observed (Dai et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).