MCID: HNH001
MIFTS: 18

Hanhart Syndrome

Categories: Rare diseases

Aliases & Classifications for Hanhart Syndrome

MalaCards integrated aliases for Hanhart Syndrome:

Name: Hanhart Syndrome 53
Hypoglossia-Hypodactylia Syndrome 53
Peromelia with Micrognathia 53
Hypoglossia-Hypodactylia 73
Aglossia Adactylia 53
Hanhart's Syndrome 73

Classifications:



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Summaries for Hanhart Syndrome

NIH Rare Diseases : 53 Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.

MalaCards based summary : Hanhart Syndrome, also known as hypoglossia-hypodactylia syndrome, is related to tyrosinemia, type ii and hypoglossia-hypodactylia. An important gene associated with Hanhart Syndrome is TAT (Tyrosine Aminotransferase). Affiliated tissues include tongue.

Wikipedia : 76 Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with... more...

Related Diseases for Hanhart Syndrome

Diseases related to Hanhart Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 11.9
2 hypoglossia-hypodactylia 11.5
3 tyrosinemia 10.4
4 corneal dystrophy 9.8

Symptoms & Phenotypes for Hanhart Syndrome

Drugs & Therapeutics for Hanhart Syndrome

Search Clinical Trials , NIH Clinical Center for Hanhart Syndrome

Genetic Tests for Hanhart Syndrome

Anatomical Context for Hanhart Syndrome

MalaCards organs/tissues related to Hanhart Syndrome:

41
Tongue

Publications for Hanhart Syndrome

Articles related to Hanhart Syndrome:

(show all 41)
# Title Authors Year
1
Richner-Hanhart syndrome (tyrosinemia type II). ( 29360903 )
2017
2
A Rare Case of Hanhart Syndrome with Mild Developmental Delay. ( 29485825 )
2016
3
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. ( 27832414 )
2016
4
Modification of mandibular advancement osteotomy in a patient with Hanhart syndrome. ( 24220429 )
2013
5
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome. ( 23954227 )
2013
6
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion. ( 22389994 )
2011
7
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. ( 21145993 )
2011
8
Hanhart syndrome. ( 21290964 )
2010
9
Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. ( 20637513 )
2010
10
Richner-Hanhart syndrome detected by expanded newborn screening. ( 18577048 )
2008
11
[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]. ( 18364160 )
2008
12
Richner Hanhart syndrome. ( 16514229 )
2006
13
Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings. ( 16780475 )
2006
14
Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. ( 16318910 )
2006
15
Intraoperative oxygen desaturation and electrocardiographic changes in a patient with Hanhart syndrome. ( 16085267 )
2005
16
Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome). ( 16270769 )
2005
17
Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. ( 12605528 )
2003
18
Oromandibular limb hypogenesis complex (Hanhart syndrome): a severe adult phenotype. ( 10232758 )
1999
19
Case report: hypoglossia-hypodactylia syndrome. ( 8707940 )
1996
20
Richner-Hanhart syndrome: importance of early diagnosis and early intervention. ( 8912606 )
1996
21
Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach. ( 8546145 )
1995
22
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. ( 7648039 )
1995
23
Dietetic therapy of Richner-Hanhart syndrome. ( 8078067 )
1993
24
Hypoglossia-hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother. ( 1642280 )
1992
25
Richner-Hanhart syndrome (oculocutaneous tyrosinaemia, tyrosinaemia type II) ( 1362969 )
1992
26
The hypoglossia-hypodactylia syndrome: report of two cases. ( 1296439 )
1992
27
Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II). ( 3054681 )
1988
28
Tyrosinaemia type II (Richner-Hanhart syndrome)--report of two cases treated with etretinate. ( 2974325 )
1987
29
The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva. ( 3654059 )
1987
30
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. ( 2947825 )
1986
31
Richner-Hanhart syndrome spares a plantar autograft. ( 3156564 )
1985
32
Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies. ( 6240214 )
1984
33
Hanhart syndrome: possibility of autosomal recessive inheritance. ( 7163273 )
1982
34
Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement). ( 6453606 )
1981
35
The hypoglossia--hypodactylia syndrome. Report of 2 cases. ( 6940078 )
1981
36
Hypoglossia-hypodactylia syndrome: report of a case. ( 6940988 )
1980
37
Richner-Hanhart syndrome and tyrosinemia type II. ( 6446465 )
1980
38
Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome). ( 23331 )
1978
39
[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)]. ( 153427 )
1978
40
The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. ( 180943 )
1976
41
Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome--a pathogenetic hypothesis. ( 1261565 )
1976

Variations for Hanhart Syndrome

Expression for Hanhart Syndrome

Search GEO for disease gene expression data for Hanhart Syndrome.

Pathways for Hanhart Syndrome

GO Terms for Hanhart Syndrome

Sources for Hanhart Syndrome

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74 UMLS via Orphanet
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