MCID: ATK002
MIFTS: 20

Atkin-Flaitz Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atkin-Flaitz Syndrome

MalaCards integrated aliases for Atkin-Flaitz Syndrome:

Name: Atkin-Flaitz Syndrome 57 53 59
Atkin Syndrome 57 53 72
X-Linked Intellectual Disability, Atkin Type 59

Characteristics:

Orphanet epidemiological data:

59
atkin-flaitz syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
atkin-flaitz syndrome:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300431
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796206
Orphanet 59 ORPHA1193
MedGen 42 C0796206
UMLS 72 C0796206

Summaries for Atkin-Flaitz Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1193DefinitionA rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.Visit the Orphanet disease page for more resources.

MalaCards based summary : Atkin-Flaitz Syndrome, also known as atkin syndrome, is related to mental retardation, x-linked 21 and telecanthus, and has symptoms including seizures Affiliated tissues include tongue, and related phenotypes are macrocephaly and obesity

More information from OMIM: 300431

Related Diseases for Atkin-Flaitz Syndrome

Diseases related to Atkin-Flaitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 21 11.3
2 telecanthus 10.5
3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.5

Symptoms & Phenotypes for Atkin-Flaitz Syndrome

Human phenotypes related to Atkin-Flaitz Syndrome:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
6 macroorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000053
7 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
10 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
11 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
12 maxillary lateral incisor microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001593
13 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
14 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
15 frontal bossing 32 HP:0002007
16 genu valgum 32 HP:0002857
17 seizures 32 HP:0001250
18 scoliosis 32 HP:0002650
19 kyphosis 32 HP:0002808
20 abnormality of the dentition 59 Very frequent (99-80%)
21 anteverted nares 59 Very frequent (99-80%)
22 intellectual disability, mild 32 HP:0001256
23 prominent forehead 32 HP:0011220
24 thick lower lip vermilion 32 HP:0000179
25 short palm 32 HP:0004279
26 genu recurvatum 32 HP:0002816
27 joint laxity 32 HP:0001388
28 downslanted palpebral fissures 32 HP:0000494
29 tall stature 32 HP:0000098
30 tapered finger 32 HP:0001182
31 broad palm 32 HP:0001169
32 widely-spaced maxillary central incisors 32 HP:0001566
33 exaggerated median tongue furrow 32 HP:0002711
34 prominent median palatal raphe 32 HP:0002708
35 heavy supraorbital ridges 32 HP:0002054

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Growth Weight:
obesity

Skeletal Spine:
scoliosis
hyperkyphosis

Genitourinary Internal Genitalia Male:
macroorchidism

Head And Neck Nose:
broad nasal tip
anteverted nostrils

Head And Neck Mouth:
exaggerated median tongue furrow
prominent median palatal raphe
thick lips
prominent lower lip

Skeletal Limbs:
genu valga
genu recurvata

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Neurologic Central Nervous System:
seizures
mental retardation, moderate to severe
mental retardation, mild (carrier females)

Head And Neck Face:
coarse facial features
prominent forehead
heavy supraorbital ridges

Growth Height:
short stature

Skeletal:
joint laxity

Skeletal Hands:
short, broad hands
tapered fingers

Head And Neck Teeth:
central incisor gap
microdontia (maxillary lateral incisors)

Clinical features from OMIM:

300431

UMLS symptoms related to Atkin-Flaitz Syndrome:


seizures

Drugs & Therapeutics for Atkin-Flaitz Syndrome

Search Clinical Trials , NIH Clinical Center for Atkin-Flaitz Syndrome

Genetic Tests for Atkin-Flaitz Syndrome

Anatomical Context for Atkin-Flaitz Syndrome

MalaCards organs/tissues related to Atkin-Flaitz Syndrome:

41
Tongue

Publications for Atkin-Flaitz Syndrome

Articles related to Atkin-Flaitz Syndrome:

# Title Authors PMID Year
1
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 38 8
7677138 1995
2
A new X-linked mental retardation syndrome. 8
3812552 1987
3
A new X-linked mental retardation syndrome. 8
4025397 1985
4
[Macro-orchidism: new pathogenetic and histopathologic aspects]. 38
8192500 1994

Variations for Atkin-Flaitz Syndrome

Expression for Atkin-Flaitz Syndrome

Search GEO for disease gene expression data for Atkin-Flaitz Syndrome.

Pathways for Atkin-Flaitz Syndrome

GO Terms for Atkin-Flaitz Syndrome

Sources for Atkin-Flaitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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