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Items: 8

1.

Aortic aneurysm, familial thoracic 6

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. [from MONDO]

MedGen UID:
435866
Concept ID:
C2673186
Disease or Syndrome
2.

Aortic aneurysm, familial thoracic 4

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. [from MONDO]

MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
3.

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. [from GeneReviews]

MedGen UID:
766268
Concept ID:
C3553354
Disease or Syndrome
4.

Sneddon syndrome

Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). [from OMIM]

MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
5.

STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014). [from OMIM]

MedGen UID:
863159
Concept ID:
C4014722
Disease or Syndrome
6.

Moyamoya disease with early-onset achalasia

Moyamoya disease-6 (MYMY6) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [from OMIM]

MedGen UID:
816733
Concept ID:
C3810403
Disease or Syndrome
7.

RECON progeroid syndrome

RECON progeroid syndrome (RECON) is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs (Abu-Libdeh et al., 2022). [from OMIM]

MedGen UID:
1841140
Concept ID:
C5830504
Disease or Syndrome
8.

Bleeding disorder, vascular-type

Vascular-type bleeding disorder (BDVAS) is an autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Features include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. Platelet function is normal and platelet transfusion does not alleviate the bleeding (Stritt et al., 2023). [from OMIM]

MedGen UID:
1853829
Concept ID:
C5935577
Disease or Syndrome
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