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Tooth agenesis, selective, 4(STHAG4)

MedGen UID:
372057
Concept ID:
C1835492
Disease or Syndrome
Synonyms: LATERAL INCISORS, ABSENCE OF; LATERAL INCISORS, PEGGED OR MISSING; STHAG4; TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA
 
Gene (location): WNT10A (2q35)
 
Monarch Initiative: MONDO:0007881
OMIM®: 150400

Definition

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. [from MONDO]

Clinical features

From HPO
Palmar hyperkeratosis
MedGen UID:
869284
Concept ID:
C4023710
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Agenesis of permanent teeth
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Abnormality of primary teeth
MedGen UID:
867237
Concept ID:
C4021596
Anatomical Abnormality
Any abnormality of the primary tooth.
Tooth agenesis
MedGen UID:
869773
Concept ID:
C4024202
Finding
The absence of one or more teeth from the normal series by a failure to develop
Peg-shaped maxillary lateral incisors
MedGen UID:
870609
Concept ID:
C4025060
Finding
A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Palmoplantar hyperhidrosis
MedGen UID:
224808
Concept ID:
C1274743
Disease or Syndrome
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006). Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.
Dystrophic toenail
MedGen UID:
318813
Concept ID:
C1833225
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Short eyelashes
MedGen UID:
411272
Concept ID:
C2748682
Finding
Decreased length of the eyelashes (subjective).
Dystrophic fingernails
MedGen UID:
764340
Concept ID:
C3551426
Finding
The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.

Recent clinical studies

Etiology

Amm EW, Antoszewska-Smith J, Boley J
Am J Orthod Dentofacial Orthop 2019 Oct;156(4):512-521.e6. doi: 10.1016/j.ajodo.2018.10.027. PMID: 31582123

Therapy

Mues G, Bonds J, Xiang L, Vieira AR, Seymen F, Klein O, D'Souza RN
Am J Med Genet A 2014 Oct;164A(10):2455-60. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36520. PMID: 24700731Free PMC Article

Clinical prediction guides

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO
Hum Genet 2018 Sep;137(9):689-703. Epub 2018 Jul 26 doi: 10.1007/s00439-018-1907-y. PMID: 30046887Free PMC Article

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