HSS
MCID: HLL001
MIFTS: 54

Hallermann-Streiff Syndrome (HSS) malady

Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Hallermann-Streiff Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards: Hallermann-Streiff Syndrome, also known as hallermann streiff syndrome, is related to congenital heart defect and cataract, and has symptoms including beaked nose, situs inversus visceralis/colon/intestine trasposition/heterotaxia and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are Gap junction trafficking and Hypertrophic cardiomyopathy (HCM). The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotype behavior/neurological.

Disease Ontology:8 A syndrome that affects growth, cranial development, hair growth and dental development.

Description from OMIM:46 234100

Aliases & Classifications for Hallermann-Streiff Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 46OMIM, 60UMLS, 20GeneTests, 22GTR, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hallermann-streiff syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hallermann-streiff syndrome 8 9 42 10 48 46
hallermann streiff syndrome 42 20 22
francois dyscephalic syndrome 8 42
hallermann's syndrome 8 60
hallermann streiff francois syndrome 42
françois dyscephalic syndrome 48
hallerman - streiff syndrome 8
hss 42


External Ids:

Disease Ontology8 DOID:4534
OMIM46 234100
SNOMED-CT56 205417000, 7903009
NCIt39 C84746
ICD10 via Orphanet26 Q87.0

Related Diseases for Hallermann-Streiff Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hallermann-Streiff Syndrome family:

Hallermann-Streiff-Like Syndrome

Diseases related to Hallermann-Streiff Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart defect30.4GJA1, IGF1
2cataract10.6
3bone fracture10.4
4hypotrichosis10.4
5retinal detachment10.4
6retinitis10.4
7aniridia10.3
8enophthalmos10.3
9coats disease10.3
10progeria10.3
11entropion10.3
12esotropia10.3
13glaucoma10.3
14hypopituitarism10.3
15laryngitis10.3
16endometrial carcinoma10.0GJA1, IGF1
17uterine fibroid10.0GJA1, IGF1

Graphical network of diseases related to Hallermann-Streiff Syndrome:



Diseases related to hallermann-streiff syndrome

Clinical Features for Hallermann-Streiff Syndrome

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

234100

Clinical synopsis from OMIM:

234100

Symptoms:

48 (show all 52)
  • beaked nose
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • large fontanelle/delayed fontanelle closure
  • supernumerary teeth/polyodontia
  • skin hypoplasia/aplasia/atrophy
  • choanal atresia
  • glaucoma
  • clinodactyly of fifth finger
  • decreased body hair/axillar/pubic hairlessness
  • small hand/acromicria
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal hair texture/hair dysplasia
  • small/triangular nares/nostrils
  • small foot
  • alopecia
  • hypoplastic mandibula/partial absence of the mandibula
  • premature eruption of teeth/natal teeth
  • clavicle absent/abnormal
  • tracheomalacia/tracheobronchomalacia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • myopia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • microcephaly
  • short stature/dwarfism/nanism
  • anomalies of teeth and dentition
  • cataract/lens opacification
  • early death/lethality
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hypothyroidy
  • high vaulted/narrow palate
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal recessive inheritance
  • flat cheek bones/malar hypoplasia
  • visual loss/blindness/amblyopia
  • brachycephaly/flat occiput
  • telecanthus/canthal dystopy
  • anomalies of eyelids, eyelashes and lacrimal system
  • skull/cranial anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • microstomia/little mouth
  • anomalies of tongue, gingiva and oral mucosa
  • mutiple fractures/bone fragility
  • strabismus/squint
  • heart/cardiac failure
  • congenital cardiac anomaly/malformation/cardiopathy
  • anomalies of the ribs
  • glossoptosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hallermann-Streiff Syndrome

Drug clinical trials:

Search ClinicalTrials for Hallermann-Streiff Syndrome

Search NIH Clinical Center for Hallermann-Streiff Syndrome

Search CenterWatch for Hallermann-Streiff Syndrome

Genetic Tests for Hallermann-Streiff Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome20 22

Anatomical Context for Hallermann-Streiff Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

32
Skin, Bone, Eye, Testes, Cerebellum, Heart, Lung, Colon, Tongue, Brain

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4BCS1L, GJA1, GJC2, OMD

Publications for Hallermann-Streiff Syndrome

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Sources:
50PubMed
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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Hallermann-streiff syndrome. (24082185)
2013
2
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. (22486910)
2012
3
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
4
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
5
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
6
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. (22393346)
2011
7
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. (21461230)
2011
8
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
2010
9
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. (18193263)
2008
10
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
11
Corneal opacities in the Hallermann-Streiff syndrome. (18484310)
2008
12
Hallermann-Streiff syndrome: those are not supernumerary teeth. (16615982)
2006
13
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. (16225817)
2005
14
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. (14765641)
2004
15
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. (12892173)
2003
16
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. (14529338)
2003
17
Commentary on Hallermann-Streiff Syndrome: experience with 15 patients and review of the literature. (10576803)
1999
18
Hallermann--Streiff syndrome. (9586407)
1997
19
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
20
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
21
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
22
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
23
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. (8275573)
1993
24
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
25
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. (1776647)
1991
26
The Hallermann-Streiff syndrome. (1840999)
1991
27
Tracheomalacia in Hallermann-Streiff syndrome. (1776648)
1991
28
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. (1776646)
1991
29
Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? (1776644)
1991
30
Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. (1776645)
1991
31
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
32
Extensive wormian bones in a patient with the Hallermann-Streiff syndrome. (2299139)
1990
33
Hallermann Streiff syndrome. (3679511)
1987
34
Hallermann-Streiff syndrome and its oral implications. (3455956)
1986
35
Hallermann-Streiff syndrome: report of case. (2942586)
1986
36
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. (3934624)
1985
37
Dento-alveolar abnormalities in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (6425475)
1984
38
Central serous choroidopathy in the Hallermann-Streiff Syndrome. (7294642)
1981
39
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. (6999913)
1980
40
Hallermann-Streiff syndrome. (7364147)
1980
41
Anesthetic management of a patient with Hallermann-Streiff syndrome. (572167)
1979
42
The value of anthropometrical measurements in a case of Hallermann-Streiff syndrome. (504910)
1979
43
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
44
Hallermann-Streiff syndrome. (4644299)
1972
45
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
46
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). (5154844)
1971
47
Hallermann-Streiff syndrome. Clinical and prognostic considerations. (5474755)
1970
48
Hallermann-Streiff syndrome. (5782859)
1969
49
Hallermann-Streiff syndrome. (5755729)
1968
50
Hallermann-Streiff syndrome. Case report. (5668584)
1968

Genetic Variations for Hallermann-Streiff Syndrome

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Expression for genes affiliated with Hallermann-Streiff Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hallermann-Streiff Syndrome

Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4GJA1, GJC2
2
Hide members
9.2GJA1, IGF1

Compounds for genes affiliated with Hallermann-Streiff Syndrome

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Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank, 2BitterDB
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Compounds related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
110panx599.7GJA1, GJC2
2gap 27599.7GJC2, GJA1
3carbenoxolone disodium599.7GJC2, GJA1
4scrambled 10panx599.6GJC2, GJA1
5octanol28 2410.6GJA1, GJC2
6carbenoxolone28 44 1111.6GJA1, GJC2
7ca2+289.5GJA1, GJC2
8flufenamic acid44 28 2 1112.5GJA1, GJC2
9lycopene44 2410.4IGF1, GJA1
10chelerythrine449.3IGF1, GJA1
11prostaglandin f2alpha449.2IGF1, GJA1
121,25 dihydroxy vitamin d3449.2GJA1, IGF1
13triiodothyronine449.1GJA1, IGF1
14progestin448.9GJA1, IGF1

GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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16Gene Ontology
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Cellular components related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.4GJA1, GJC2

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.4GJA1, GJC2

Products for genes affiliated with Hallermann-Streiff Syndrome

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Sources for Hallermann-Streiff Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet