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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 situs inversus visceralis/colon/intestine trasposition/heterotaxia, small foot and clinodactyly of fifth finger. 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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

234100

Clinical synopsis from OMIM:

234100

Symptoms:

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

Drugs & Therapeutics for Hallermann-Streiff Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome20 22

Anatomical Context for Hallermann-Streiff Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

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

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome. (23728903)
2013
2
Hallermann-Streiff syndrome with cutaneous manifestations. (24168356)
2013
3
Orodental findings in Hallermann-Streiff syndrome. (22842271)
2012
4
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. (22996707)
2012
5
Hallermann-Streiff syndrome: a case report from Georgia. (21617280)
2011
6
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. (21821160)
2011
7
Hallermann-Streiff syndrome: case report and literature review. (21516279)
2011
8
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
9
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. (22393346)
2011
10
Hallermann-Streiff syndrome: a case report. (21163145)
2010
11
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. (19247763)
2009
12
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. (18193263)
2008
13
Hallermann-Streiff syndrome: a case review. (15347328)
2004
14
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
15
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. (10388418)
1999
16
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. (10573253)
1999
17
Atrial septal defect in Hallermann Streiff syndrome. (9219014)
1997
18
Hallermann--Streiff syndrome. (9586407)
1997
19
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
20
Hallermann-Streiff syndrome with Coats disease. (8014786)
1994
21
Hallermann-Streiff syndrome. (8262609)
1993
22
Hallermann-Streiff syndrome. (1428149)
1992
23
Hallermann-Streiff syndrome: a review. (1776643)
1991
24
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. (1776647)
1991
25
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
26
Tracheomalacia in Hallermann-Streiff syndrome. (1776648)
1991
27
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
28
Dental radiographic signs characteristic to Hallermann-Streiff syndrome. (2196502)
1990
29
Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. (3125273)
1987
30
Hallermann Streiff syndrome. (3679511)
1987
31
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. (3934624)
1985
32
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. (3877095)
1985
33
Airway management in Hallermann-Streiff syndrome. (6534195)
1984
34
Dento-alveolar abnormalities in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (6425475)
1984
35
Surgical correction of the dentofacial abnormality in Hallermann-Streiff syndrome. (7042940)
1982
36
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
37
Anesthetic management of a patient with Hallermann-Streiff syndrome. (572167)
1979
38
Hallermann-Streiff syndrome and progeria. (1162428)
1975
39
The Hallermann-Streiff syndrome. (4449119)
1974
40
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
41
The Hallermann-Streiff syndrome. (5559232)
1971
42
Hallermann-Streiff syndrome. (5457544)
1970
43
Glaucoma in the Hallermann-Streiff syndrome. (5448132)
1970
44
Hallermann-Streiff syndrome. (5782859)
1969
45
Hallermann-Streiff syndrome. Case report. (5668584)
1968
46
Dyscephalia mandibulo-oculo-facialis. Hallermann-Streiff syndrome. A case report. (5587180)
1967
47
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy. (4955061)
1966
48
DYSCEPHALIA MANDIBULO-OCULO-FACIALIS. (HALLERMANN-STREIFF SYNDROME). (14259273)
1965
49
Spontaneous cataract absorption in Hallermann-Streiff syndrome. (5872665)
1965
50
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis. (13821451)
1960

Genetic Variations for Hallermann-Streiff Syndrome

About this section

Expression for genes affiliated with Hallermann-Streiff Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
See all sources

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

About this section
Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank, 2BitterDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hallermann-Streiff Syndrome

About this section
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