Gene Summary

Name:
KRIT1, ankyrin repeat containing
Synonyms:
Krit1,  Krit1B,  Krit1A,  2010007K12Rik,  A630036P20Rik,  Ccm1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart looping Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
absent optic nerve Krit1tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal allantois morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal pharyngeal arch morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic growth retardation Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal vitelline vasculature morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal left-right axis patterning Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
pale yolk sac Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Krit1tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Krit1tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal eye morphology Krit1tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased grip strength Krit1tm1.1(KOMP)Vlcg HET Early adult 1.59×10-05
abnormal blood vessel morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal hindbrain development Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal optic vesicle formation Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal midbrain development Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal somite shape Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal otic vesicle morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Krit1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal pericardium morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal visceral yolk sac morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
pallor Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube morphology Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal forebrain development Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal chorioallantoic fusion Krit1tm1.1(KOMP)Vlcg HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Blood  Section images heterozygote 50% (1 of 2)
Bone marrow  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (5 of 5)
Axial skeleton N/A heterozygote 100% (5 of 5)
Brain N/A heterozygote 100% (5 of 5)
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Not available
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (5 of 5)
Embryo N/A heterozygote 100% (5 of 5)
Outer ear N/A heterozygote 100% (5 of 5)
Eye N/A heterozygote 100% (5 of 5)
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote 100% (5 of 5)
Forebrain N/A heterozygote 100% (5 of 5)
Forelimb N/A heterozygote 100% (5 of 5)
Fronto-nasal process N/A heterozygote 100% (5 of 5)
Gut N/A heterozygote 100% (5 of 5)
Handplate N/A heterozygote Ambiguous
Head mesenchyme N/A heterozygote 100% (5 of 5)
Head N/A heterozygote 100% (5 of 5)
Heart ventricle N/A heterozygote 20% (1 of 5)
Heart N/A heterozygote 100% (5 of 5)
Hindbrain N/A heterozygote 80% (4 of 5)
Hindlimb N/A heterozygote 100% (5 of 5)
Intestine N/A heterozygote 100% (5 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower leg N/A heterozygote 100% (5 of 5)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (5 of 5)
Maxillary process N/A heterozygote 100% (5 of 5)
Midbrain N/A heterozygote 100% (5 of 5)
Nasal septum N/A heterozygote 100% (5 of 5)
Nose N/A heterozygote 100% (5 of 5)
Notochord N/A heterozygote Ambiguous
Oral cavity N/A heterozygote 100% (5 of 5)
Outflow tract N/A heterozygote 100% (5 of 5)
N/A heterozygote 0.0% (0 of 1)
Chorioallantoic placenta N/A heterozygote Not available
Skeleton N/A heterozygote 100% (5 of 5)
Skin N/A heterozygote 100% (5 of 5)
Spinal cord N/A heterozygote 100% (5 of 5)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (5 of 5)
Trunk mesenchyme N/A heterozygote 100% (5 of 5)
Umbilical artery embryonic part N/A heterozygote 100% (5 of 5)
Umbilical vein embryonic part N/A heterozygote 100% (5 of 5)
Upper arm N/A heterozygote 100% (5 of 5)
Upper leg N/A heterozygote 100% (5 of 5)
Vibrissa N/A heterozygote 0.0% (0 of 5)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pericardium 1.85% (1 of 54)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

132 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Krit1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Krit1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebral Cavernous Malformations
Cerebral calcification OMIM:116860
Familial Cerebral Cavernous Malformation
Venous malformation ORPHA:221061

The table below shows human diseases predicted to be associated to Krit1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Morning glory anomaly, Microphth... OMIM:120200
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Conductive hearing impairment, Webbed neck, ... ORPHA:1131
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Posterior cerebral artery stenosis, Coronary artery atherosclerosis, Cy... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Cupped ear, Sensorineural he... OMIM:602588
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Br... ORPHA:50815
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect OMIM:600776
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Optic nerve hypoplasia OMIM:615879
Aplasia Cutis Congenita
Spinal dysraphism, Skin ulcer ORPHA:1114
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Abnormal heart morphology, Patent ductus arteriosus, ... OMIM:618164
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Coloboma, Branchial anomaly, Ventricular septal defect, Abn... ORPHA:453499
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Aplasia/Hypoplasia of the optic nerve, Op... ORPHA:137634
Retinitis Pigmentosa 42
Pallor OMIM:612943
Holoprosencephaly
Panhypopituitarism, Abnormality of the antihelix, Chorioretinal coloboma, Aplasia/Hypoplasia of t... ORPHA:2162
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear, Microcephaly, Severe postnatal ... ORPHA:435938
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Retinitis Pigmentosa 60
Pallor OMIM:613983
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Hol... ORPHA:1908
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Retinitis Pigmentosa 81
Pallor OMIM:617871
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Attrv30M Amyloidosis
Vitreous floaters, Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Optic Atrophy 9
Pallor OMIM:616289
Hemifacial Microsomia
Anotia, Agenesis of corpus callosum, Branchial anomaly, Ventricular septal defect, Conductive hea... OMIM:164210
Cyclic Vomiting Syndrome
Growth delay, Hearing impairment, Microcephaly, Pallor, Cardiomyopathy OMIM:500007
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Cupp... OMIM:113650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peripheral Cone Dystrophy
Pallor OMIM:609021
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Fanconi Anemia, Complementation Group I
Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Absent septum pellu... OMIM:609053
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor, Hydrocephalus ORPHA:163596
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Abnormal aortic valve morphology, Abnormal ventricular septum morphology, Opti... OMIM:615280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Sensorineural hearing impairment, Short stature,... ORPHA:49827
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Low-set, posteriorly rotate... ORPHA:1926
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Pallor, Hypertrophic cardiomyopathy OMIM:612989
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Auditory Neuropathy And Optic Atrophy
Hearing impairment, Pallor OMIM:617717
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Distal 22Q11.2 Microduplication Syndrome
Abnormality of the antihelix, Ventricular septal defect, Optic disc coloboma, Branchial fistula, ... ORPHA:261337
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular... ORPHA:1166
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Coloboma, Branchial anomaly, Ventricular septal defect, Abn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Coloboma, Branchial anomaly, Ventricular septal defect, Abn... ORPHA:352665
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Microphthalmia, Cardiomegaly ORPHA:858
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Rheumatic Fever
Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve morphology, Ab... ORPHA:3099
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy ORPHA:496790
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Short neck ORPHA:2516
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615181
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm, Myxomatous mitral v... OMIM:130090
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Aortic aneurysm, Umbilical hernia ORPHA:90348
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Sensorineural hearing impairment,... OMIM:617660
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Retinitis Pigmentosa 70
Pallor OMIM:615922
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Retinitis Pigmentosa 27
Pallor OMIM:613750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Hearing impairment, Branchial cyst ORPHA:2260
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Growth de... ORPHA:261330
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Short neck, Patent ductus arteriosus, Hypoplastic left heart ORPHA:2001
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Microphthalmia, Patent foramen ovale OMIM:618652
Catel-Manzke Syndrome
Cystic hygroma, Ventricular septal defect, Coarctation of aorta, Umbilical hernia, Dextrocardia, ... OMIM:616145
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... ORPHA:231160
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy,... OMIM:613426
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Optic atrophy, Cardiomyopathy ORPHA:370959
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Cerebral atrophy, Pallor OMIM:613839
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta ORPHA:101028
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Mulibrey Nanism
Myocardial fibrosis, Pigmentary retinopathy, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614300
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Breath-Holding Spells
Pallor OMIM:607578
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Cerebral Visual Impairment
Retinopathy of prematurity, Increased cup-to-disc ratio, Optic nerve hypoplasia, Optic atrophy, O... ORPHA:447788
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Retinitis Pigmentosa 73
Pallor OMIM:616544
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia ORPHA:401777
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Squalene Synthase Deficiency
Optic nerve hypoplasia, Bicuspid aortic valve OMIM:618156
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Conductive hearing impairment, Webbe... ORPHA:1393
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Hearing impairment, Posteriorly rotated ears, Branchial anomaly ORPHA:466950
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity,... OMIM:606519
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Pallor ORPHA:536516
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula, Cardiomyopathy OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Delayed puberty, Pallor OMIM:600462
Dravet Syndrome
Pallor, Limited neck range of motion, Dysgenesis of the hippocampus ORPHA:33069
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Hsd10 Disease, Infantile Type
Retinal degeneration, Cardiomegaly, Optic atrophy, Rod-cone dystrophy, Hypertrophic cardiomyopathy ORPHA:391428
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Retinal dystrophy OMIM:300953
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Coarctation of aor... ORPHA:284169
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Noonan Syndrome 9
Ventricular septal defect, Webbed neck, Pulmonic stenosis, Coarctation of aorta, Short neck OMIM:616559
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Double outlet right ventricle, Optic ... OMIM:301056
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Bicuspid aortic... ORPHA:402075
Treacher-Collins Syndrome
Narrow internal auditory canal, Conductive hearing impairment, Branchial fistula, Patent ductus a... ORPHA:861
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Myoclonus, Intractable, Neonatal
Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
American Trypanosomiasis
Pallor, Cardiomyopathy, Myocarditis ORPHA:3386
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Limitation of neck motion, Lipomyelomenin... ORPHA:268810
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Non-Functioning Paraganglioma
Conductive hearing impairment, Pallor, Pulsatile tinnitus ORPHA:94080
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Microphthalmia, Syndromic 3
Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Branchiooculofacial Syndrome
Low posterior hairline, Branchial anomaly, Overfolded helix, Conductive hearing impairment, Retin... OMIM:113620
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:610125
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Pallor OMIM:246450
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Optic nerve hypoplasia OMIM:609069
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Fanconi Anemia, Complementation Group D2
Anemic pallor, Agenesis of corpus callosum, Abnormal heart morphology, Hypoplasia of the corpus c... OMIM:227646
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Ventricular septal defect ORPHA:261250
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Cyclopia, Abnormal heart morphology, Growth dela... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Cyclopia, Abnormal heart morphology, Growth dela... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Cyclopia, Abnormal heart morphology, Growth dela... ORPHA:93924
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Cyclopia, Abnormal heart morphology, Growth dela... ORPHA:220386
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Septo-optic dysplasia, Optic nerve hypo... OMIM:301043
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Asymmetry of the ears, Branchial cyst, Abnormal heart morphology, Complete at... ORPHA:508488
Fumarase Deficiency
Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Microcephaly, Pallor, Open operculum OMIM:606812
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Pallor ORPHA:3226
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Myopathy, Mitochondrial, And Ataxia
Growth delay, Hearing impairment, Increased circulating prolactin concentration, Short stature, P... OMIM:617675
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor OMIM:300749
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Pituitary... ORPHA:95613
Dominant Beta-Thalassemia
Growth delay, Hypopituitarism, Delayed puberty, Dilated cardiomyopathy, Pallor, Skin ulcer ORPHA:231226
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Aniridia 1
Aniridia, Macular agenesis, Chorioretinal hypopigmentation, Hypoplasia of the iris, Optic nerve h... OMIM:106210
Fg Syndrome Type 1
Mitral valve prolapse, Atrial septal defect, Optic nerve hypoplasia ORPHA:93932
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect ORPHA:79345
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic tortuosity, Generalized arterial tortuosity, Umbilical hernia, Ao... OMIM:208050
Retinitis Pigmentosa 51
Pallor OMIM:613464
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:606003
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomegaly, Cardiomyopathy OMIM:619259
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Growth delay, Abnormal pulmonary valve morphology, Hearing impairment,... ORPHA:667
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Iniencephaly
Cystic hygroma, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myel... ORPHA:63259
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Bicuspid aortic valve, Torticollis... OMIM:614816
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Retinal coloboma, Bicuspid aortic valve, Perimembr... ORPHA:508498
Histiocytoid Cardiomyopathy
Hydrocephalus, Ventricular septal defect, Cardiomegaly, Pallor, Agenesis of corpus callosum ORPHA:137675
Phace Syndrome
Abnormal heart morphology, Lens coloboma, Abnormal cardiac septum morphology, Optic nerve hypopla... ORPHA:42775
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... OMIM:613834
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormon... ORPHA:91355
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Short stature OMIM:603546
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Beta-Thalassemia Major
Growth delay, Hypopituitarism, Delayed puberty, Dilated cardiomyopathy, Pallor, Skin ulcer ORPHA:231214
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy ORPHA:261349
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Webbed neck, Tricuspid stenosis, Short stature, ... OMIM:105650
Sickle Cell Anemia
Hepatomegaly, Retinopathy, Cardiomegaly, Splenomegaly OMIM:603903
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Prolactinoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:2965
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Optic nerve hypoplasia, Microphthalmi... OMIM:614643
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Noonan Syndrome 2
Atrial septal defect, Low posterior hairline, Abnormal coronary artery origin, Ventricular septal... OMIM:605275
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Microcephaly, Pallor, Leukoencephalopathy ORPHA:20
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Polymicro... OMIM:253280
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation, Abnormal heart morphology OMIM:618343
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arteriosus, Pulmonic ... OMIM:616564
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Optic nerve hypoplasia, Paten... OMIM:617506
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Webbed neck, Growth d... ORPHA:124
Cold Agglutinin Disease
Pallor ORPHA:56425
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Hearing impairment, Short stature, Intrauterine growth ... OMIM:227645
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology, Hearing impairment, Short stature, Microcephaly OMIM:600901
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Increased circulating gonadotropin level, Elevated circulatin... ORPHA:91347
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Sandhoff Disease
Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... OMIM:268800
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology, Hearing impairment, Short stature, Microcephaly OMIM:227650
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Pallor, Pulsatile tinnitus ORPHA:276621
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Mosaic Trisomy 16
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Large placenta, Crani... ORPHA:1708
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Me... ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal dysplasia, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, O... OMIM:236670
Esophageal Atresia
Coloboma, Ventricular septal defect, Growth delay, Hearing impairment, Tetralogy of Fallot, Pallor ORPHA:1199
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Short neck, Umbilical hernia ORPHA:1001
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia, Dilatation of the ventricular cavity ORPHA:2177
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Irida Syndrome
Pallor ORPHA:209981
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture, Umbilical hernia OMIM:614557
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Aniridia, Pallor, Pulsatile tinnitus ORPHA:29072
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Infantile sensorineural hearing impairment, Abnormal heart morphology,... ORPHA:798
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Arterial stenosis, Vascular dilatation, Pulmonary artery sten... ORPHA:3342
Incontinentia Pigmenti
Delayed eruption of teeth, Erythema, Short stature, Microcephaly, Pallor OMIM:308300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Brachial plexus neuropathy ORPHA:268
Myelofibrosis
Pallor, Purpura OMIM:254450
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Hereditary Folate Malabsorption
Pallor, Cerebral calcification ORPHA:90045
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Senior-Loken Syndrome 8
Pallor OMIM:616307
Fryns Syndrome
Thickened nuchal skin fold, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal... ORPHA:2059
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature ORPHA:98870
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Sepsis In Premature Infants
Petechiae, Pallor, Purpura ORPHA:90051
Retinitis Pigmentosa 75
Pallor OMIM:617023
Beta-Thalassemia Intermedia