Inherited blood coagulation disorder

MedGen UID:: 163105
•Concept ID:: C0852077
•: Disease or Syndrome

Synonyms:	bleeding; Blood Coagulation Disorders, Inherited

Monarch Initiative:	MONDO:0021181
Orphanet:	ORPHA183654

Definition

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInherited blood coagulation disorder

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Inherited blood coagulation disorder
        Afibrinogenemia
        Bernard Soulier syndrome
        Bernard-Soulier syndrome type C
        Bernard-Soulier syndrome, type A1
        Bernard-Soulier syndrome, type A1 (recessive)
        Bernard-Soulier syndrome, type B
        Congenital factor V deficiency
        Factor VII deficiency
        Acquired factor VII deficiency
        Factor VII Inactivation
        Congenital factor VII deficiency
        Factor X deficiency
        Acquired factor X deficiency
        Factor X Inactivation
        Hereditary factor X deficiency disease
        Factor XII deficiency disease
        Acquired Factor XII Deficiency
        Factor XII Inactivation
        Hereditary factor XII deficiency disease
        Glanzmann thrombasthenia
        Gray platelet syndrome
        Hereditary antithrombin deficiency
        Hereditary factor IX deficiency disease
        Hemophilia B Brandenburg
        Hemophilia B leyden
        Hemophilia b(m)
        Mild hemophilia B
        Moderately severe hemophilia B
        Severe hemophilia B
        Symptomatic form of hemophilia B in female carriers
        Hereditary factor VIII deficiency disease
        Hemophilia A with vascular abnormality
        Mild hemophilia A
        Moderately severe hemophilia A
        Severe hemophilia A
        Symptomatic form of hemophilia A in female carriers
        Hereditary factor XI deficiency disease
        Hereditary factor XIII deficiency disease
        Hermansky-Pudlak syndrome
        Hermansky-Pudlak syndrome 1
        Hermansky-Pudlak syndrome 2
        Hermansky-Pudlak syndrome 3
        Hermansky-Pudlak syndrome 4
        Hermansky-Pudlak syndrome 5
        Hermansky-Pudlak syndrome 6
        Hermansky-Pudlak syndrome 7
        Hermansky-Pudlak syndrome 8
        Hermansky-Pudlak syndrome 9
        Hermansky-Pudlak syndrome 10
        Hermansky-Pudlak syndrome with pulmonary fibrosis
        Hermansky-Pudlak syndrome without pulmonary fibrosis
        Prothrombin deficiency
        Acquired hypoprothrombinemia
        Factor II Inactivation
        Congenital prothrombin deficiency
        Reduced protein C activity
        Resistance to activated protein C
        Upshaw-Schulman syndrome
        von Willebrand disorder
        Acquired von willebrand syndrome
        Hereditary von Willebrand disease
        Pseudo von Willebrand disease
        von Willebrand disease type 1
        von Willebrand disease type 2
        von Willebrand disease type 3
        Von Willebrand disease, X-linked form
        Von Willebrand disease type 2A
        Von Willebrand disease type 2B
        von Willebrand disease type 2M
        von Willebrand disease type 2N
        Wiskott-Aldrich syndrome

Professional guidelines

PubMed

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Lee A, Maier CL, Batsuli G
Haemophilia 2022 Jul;28(4):633-641. Epub 2022 Apr 12 doi: 10.1111/hae.14559. PMID: 35412688 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Lee A, Maier CL, Batsuli G
Haemophilia 2022 Jul;28(4):633-641. Epub 2022 Apr 12 doi: 10.1111/hae.14559. PMID: 35412688 Free PMC Article

Cancer in persons with inherited blood coagulation disorders.

Forman WB
Cancer 1979 Sep;44(3):1059-61. doi: 10.1002/1097-0142(197909)44:3<1059::aid-cncr2820440338>3.0.co;2-u. PMID: 573172

See all (2)

Therapy

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Lee A, Maier CL, Batsuli G
Haemophilia 2022 Jul;28(4):633-641. Epub 2022 Apr 12 doi: 10.1111/hae.14559. PMID: 35412688 Free PMC Article

See all (1)

Clinical prediction guides

Protein residue network analysis reveals fundamental properties of the human coagulation factor VIII.

Lopes TJS, Rios R, Nogueira T, Mello RF
Sci Rep 2021 Jun 16;11(1):12625. doi: 10.1038/s41598-021-92201-3. PMID: 34135429 Free PMC Article

See all (1)

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Inherited blood coagulation disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Therapy

Clinical prediction guides

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Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

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