Autoimmunity, and Wide nose

Diseases related with Autoimmunity and Wide nose

In the following list you will find some of the most common rare diseases related to Autoimmunity and Wide nose that can help you solving undiagnosed cases.


Top matches:

Medium match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Low match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Low match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Low match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Low match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Low match MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME


Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.

MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME Is also known as mmcat syndrome

Related symptoms:

  • Depressivity
  • Posteriorly rotated ears
  • Telecanthus
  • Abnormality of the eye
  • Coloboma


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Wide nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Wide nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Wide nasal bridge Recurrent infections Short stature Long eyelashes Generalized hypotonia Hypertelorism Constipation Thick eyebrow Feeding difficulties in infancy Hearing impairment Microcephaly Failure to thrive Growth delay Ptosis Brachydactyly Anteverted nares Muscular hypotonia Scoliosis Abnormal heart morphology Wide mouth Posteriorly rotated ears Small nail Sparse scalp hair Low anterior hairline Coarse facial features

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Strabismus Sparse hair Prominent forehead Anemia Diarrhea Thin upper lip vermilion High palate Intrauterine growth retardation Hepatomegaly Thick vermilion border Abnormality of the skeletal system Thick lower lip vermilion Atrial septal defect Trichorrhexis nodosa Immunodeficiency Abnormality of the pinna Otitis media Decreased antibody level in blood Hashimoto thyroiditis Highly arched eyebrow Abnormal cardiac septum morphology Coloboma Brittle hair Microdontia Clinodactyly Abnormal corpus callosum morphology Delayed speech and language development Broad philtrum Depressivity Downslanted palpebral fissures Hypodontia Recurrent otitis media Hypoglycemia Macrotia Neurological speech impairment Delayed skeletal maturation Growth hormone deficiency Abnormality of metabolism/homeostasis Long philtrum Short nose Neoplasm Micrognathia Lethargy Abnormality of the liver Congenital mitral stenosis Dry skin Confusion Vertigo Cirrhosis Anoperineal fistula Small for gestational age Lymphedema Hepatitis Chronic diarrhea Colitis Woolly hair Villous atrophy Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Irritability Absent speech Cerebellar hypoplasia Microcytic anemia Nocturnal lagophthalmos Weight loss Small face Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Coma Gliosis Cholangitis Biliary atresia Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Bronchomalacia Prominent fingertip pads Vertical orbital dystopia Sclerosing cholangitis Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Single ventricle Recurrent aspiration pneumonia Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Osteopenia Short distal phalanx of finger Diabetes mellitus Overlapping fingers Optic atrophy Edema Cerebral atrophy Alopecia Retrognathia Blepharophimosis Hepatic failure Recurrent fractures Short palpebral fissure Prominent occiput Thoracic scoliosis Hypoventilation Chronic constipation Generalized edema Absent fifth fingernail Hand clenching Ectodermal dysplasia Sparse eyelashes Oligodontia Reduced number of teeth Agenesis of permanent teeth Thin eyebrow Telecanthus Abnormality of the eye Microcornea Broad nasal tip Chorioretinal atrophy Posterior subcapsular cataract Sensorineural hearing impairment Absent fifth toenail Short philtrum Hypermetropia Arachnodactyly Osteoporosis Vitiligo Dandy-Walker malformation Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Vomiting Thick nasal alae Fatigue Fever Craniosynostosis Arnold-Chiari malformation Prominent interphalangeal joints Trigonocephaly Sagittal craniosynostosis Small pituitary gland Low-set ears Visual impairment Motor delay Abnormality of cardiovascular system morphology Agenesis of corpus callosum High forehead Poor speech Macroglossia Hypertrichosis Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Patellar dislocation Autoimmune thrombocytopenia Scaphocephaly Dilatation Dolichocephaly Epicanthus Pectus excavatum Myopia Myopathy Ventricular septal defect Frontal bossing Macrocephaly Abnormality of the dentition Intellectual disability, mild Kyphosis Renal insufficiency Skeletal muscle atrophy Muscle weakness Cleft palate Hernia Obesity Hypospadias Germinoma Patent ductus arteriosus Visual loss Abnormality of the anterior pituitary Pneumonia Severe short stature Hypertonic dehydration Micropenis Hypothyroidism Pes planus Jaundice Cryptorchidism Joint hyperflexibility Anxiety Abnormality of the optic nerve Delayed gross motor development Cachexia Intracranial hemorrhage Aortic aneurysm Cutis marmorata Multiple lipomas Multiple cafe-au-lait spots Hamartoma Irregular hyperpigmentation Telangiectasia Lipoma Capillary hemangioma Meningioma Arteriovenous malformation Angina pectoris Nevus Thyroid carcinoma Intestinal polyposis Visceral angiomatosis Neoplasm of the breast Hamartomatous polyposis Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Abnormal large intestine morphology Neoplasm of the adrenal cortex Tall stature Subcutaneous nodule Broad thumb Lymphoma Hydronephrosis Joint laxity Overweight Bilateral cryptorchidism Sparse and thin eyebrow Increased body weight Congenital hip dislocation Horseshoe kidney Hyperbilirubinemia Purpura Abnormal dermatoglyphics Abnormality of the urinary system Poor suck Failure to thrive in infancy Syncope Precocious puberty Cupped ear Preauricular pit Cafe-au-lait spot Hydroureter Bundle branch block Right bundle branch block Celiac disease Long palpebral fissure Severe hearing impairment Transposition of the great arteries Cerebellar vermis atrophy Autoimmune hemolytic anemia Congenital hypothyroidism Thyroiditis IgA deficiency Narrow palate Anal stenosis Abnormal vertebral morphology Renal dysplasia Intellectual disability, moderate Hirsutism Abnormality of the kidney Nocturia Postnatal growth retardation Pollakisuria Respiratory tract infection Protruding ear Paralysis Central diabetes insipidus Histiocytosis Malabsorption Anal atresia Astigmatism Joint hypermobility Polymicrogyria Hemolytic anemia Heterotopia Enuresis Single transverse palmar crease Orthostatic hypotension Intestinal malrotation Prominent nose Dental malocclusion Diabetes insipidus Polyuria Polydipsia Congenital diaphragmatic hernia Coarctation of aorta Blue sclerae Dehydration Hypotension Chorioretinal degeneration



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Gait ataxia, related diseases and genetic alterations

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